伴有体液免疫缺陷的22号染色体单体：是否存在免疫球蛋白链缺陷？

García Miranda J L, Otero Gómez A, Varela Ansedes H, Rancel Torres N, González Espinosa C, Cortabarría C, Sánchez Salgado G

J Med Genet. 1983 Feb;20(1):69-72. doi: 10.1136/jmg.20.1.69.

The cytogenetic analysis of a patient with selective deficit of IgA and decrease in IgM, IgE, and IgG is presented. Using trypsin-Giemsa banding the karyotype showed monosomy 22 (45,XX,-22). The interest of this case lies in the rarity of the illness and in the association of monosomy 22 with hypogammaglobulinaemia and selective deficit of IgA, particularly as this chromosome is known to contain genes coding for immunoglobulin chains.

本文报告了一例患有选择性IgA缺陷以及IgM、IgE和IgG降低的患者的细胞遗传学分析结果。采用胰蛋白酶-吉姆萨显带法，核型显示为22号染色体单体（45,XX,-22）。该病例的意义在于疾病的罕见性以及22号染色体单体与低丙种球蛋白血症和选择性IgA缺陷的关联，特别是因为已知该染色体包含编码免疫球蛋白链的基因。